Marfan Syndrome Research Paper

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

Essentially, Marfan Syndrome, a mainly inherited autosomal dominant disorder, affects men and women of any and all racial groups. According to The Marfan Foundation, statistically 1/5000 people suffer from Marfan syndrome, while “3 out of 4 people with Marfan Syndrome inherit it” (What is Marfan Syndrome?, 1). While 1/2 of all those affected with Marfan Syndrome will pass down the disorder to a child, some sufferers are “the first in their family to have it; when this happens it is called a spontaneous mutation” (What is Marfan Syndrome?, 1).

No autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent don’t have any autosomal dominant disorders, then the child won’t have

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The heart is also affected by the MPS 2. Many individuals develop heart valve problems. Heart valve abnormalities can cause the hart to become enlarged and eventually lead to heart failure.

The condition presents itself congenitally. Cardiofaciocutaneous syndrome is a diversified congenital abnormality disorder that has numerous amounts of obvious symptoms. Individuals in possession of this disorder have oddities in their facial features, skin and hair, heart, digestive system, growth, and intellectual ability. Typically, they have a large forehead and head, a concave nasal arch, and droopy wide-spaced eyes. This causes them to be astigmatic and have skittish eyes, which can possibly result in abated eyesight and awareness. Their skin awfully lacks moisture and is quite thick. They have very little curly and brittle hair on their head. They also may not have, or only have very little, eyelashes or eyebrows.

The FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

There was a high debate and many aweing theories arguing if Abraham Lincoln had a disorder called Marfan syndrome or not, which was eventually resolved when Lincoln actually inherited a disease called Multiple Endocrine Neoplasia Type 2B. Contributing to the dispute of Marfan syndrome in Abraham Lincoln, in 1964 a physician published his findings and observations in the Journal of the American Medical Association which diagnosed Abraham Lincoln that he had Marfan syndrome (Kugler). However, his conclusions were eventually proven wrong. But despite the false accusations, Marfan syndrome does exist in this world. Anyone who inherits Marfan syndrome

Marfan syndrome is a hereditary autosomal dominant disorder that affects “about 1 in 5,000 people…” (Marfan Foundation, 2014) Marfan syndrome is not prevalent

Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue, affecting mostly the skeletal, ocular and cardiovascular systems, caused by mutations in the FBN1 gene. (Fernandes et al 2016) It was first described just about 100 years ago and was one of the first conditions classified as a heritable disorder of the connective tissue. MFS lies at one end of a phenotypic spectrum, with people in the general population who have one or another of the features of MFS at the other end, and those with a variety of other conditions in between. (Pyeritz 2000) One in four cases of MFS occur through due to a random mutation the rest are inherited. (Lima et al 2010) Marfan syndrome affects anywhere from 1–2/10,000 individuals and has a large amount of variation in its symptoms and severity. The incredible variability of Marfan syndrome and the lack of identifiable phenotype-genotype correlations point to the occurrence of modifier genes. (Fernandes et al 2016) According to Groth et al. the prevalence of MFS could increase because during their 38 year study they saw a clear rise in prevalence. The age of diagnosis for MFS can range throughout an entire lifetime however the median age of diagnosis is 19 years old. It has the potential to be a life threatening

Most people with WS are happy as they are outgoing and extremely social. People with WS need to be closely monitored for their heart, because heart problems are quite common in this syndrome. SVAS or supravalvular aortic stenosis, is the narrowing of blood vessels and the Aorta. This may cause heart failure, breathing problems, and chest pain. And surprisingly, only 1 in 10,000 people get this syndrome. But with all the upsides and helpable things, this disorder is negative as it could kill if not treated. Many symptoms if not treated can be fatal. Symptoms include Scoliosis (a curved spine), abnormally small head, ADD (Attention Deficit Disorder), farsightedness, sunken chest, development delays, and trouble gaining weight as a baby.

The current treatment is surgery and close watch on the heart. Many patients are waiting for a proper treatment, but that is yet to come. The methods of Diagnosis for Marfan syndrome are different than the current state of the treatment. The current, effective treatment for Marfan’s is called Ghent nosology. Ghent nosology is appropriately described by J.S. Dean from the European Journal of Human Genetics, saying “In the Ghent nosology, clinical features are assessed within the seven body ‘systems’, to determine whether that system provides a major criterion, or only system involvement. A diagnosis of Marfan syndrome requires a major criterion in two systems and involvement of a third” (pg. 726). The most common areas Marfan syndrome affects is the cardiovascular, ocular, skeletal, and respiratory systems. The cardiovascular assessment part of Ghent nosology requires measurement of the aortic diameter and possibly an EKG. The ocular part of Ghent nosology can be found easily if the person has or needs glasses or has had recurrent eye problems. The skeletal test of Ghent nosology is measured through X-rays, MRI’s, and comparisons of normal values based on height and weight. Issues with the respiratory system can also be found through X-Rays and MRI’s. One other way to diagnose Marfan’s is through genetic testing. Genetic testing is the quickest way to diagnosis Marfan’s but not the most accurate, as some

Marfan Syndrome is caused by a mutation in the gene that determines the structure of the fibrillin 1 gene. The fibrillin